Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease.
Cassiano Augusto Braga SilvaFellype de Carvalho BarretoOsvaldo Merege Vieira NetoLeandro Junior LuccaFernando A VieiraAna Paula Santana GueirosMarta V BogerArtur Quintiliano SilvaFelipe Leite GuedesKarla Cristina P IsraelGina Elizabeth Moreno GordonValeria S P VelosoGabriela SevignaniCarolina Teles BarrettoMaria Gabriela RosaRoberta C PascottoGelzie S EnnesEduarda Morgana da Silva Montenegro Malaguti SouzaMarcia Goncalves RibeiroLuis Gustavo Modelli de AndradePublished in: Molecular genetics and metabolism (2024)
This study contributes to the diagnostic value of the biomarkers α-GAL and lyso-GL3 in the context of FD in women with CKD. The combination of these biomarkers was an effective approach for the diagnosis of the disease, with high PPV and NPV.